Incidental Mutation 'IGL00927:Grk2'
ID 29510
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grk2
Ensembl Gene ENSMUSG00000024858
Gene Name G protein-coupled receptor kinase 2
Synonyms betaARK1, Bark-1, Adrbk-1, beta ARK1, Adrbk1, beta-AR kinase-1, beta-adrenergic receptor kinase-1, beta ARK
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00927
Quality Score
Status
Chromosome 19
Chromosomal Location 4336029-4356250 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4337982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 508 (N508S)
Ref Sequence ENSEMBL: ENSMUSP00000086114 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025791] [ENSMUST00000056888] [ENSMUST00000088737] [ENSMUST00000113837] [ENSMUST00000163858] [ENSMUST00000171123] [ENSMUST00000167215] [ENSMUST00000167511]
AlphaFold Q99MK8
Predicted Effect probably benign
Transcript: ENSMUST00000025791
AA Change: N466S

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000025791
Gene: ENSMUSG00000024858
AA Change: N466S

DomainStartEndE-ValueType
RGS 12 133 3.17e-30 SMART
S_TKc 149 411 2.43e-86 SMART
S_TK_X 412 491 5.3e-9 SMART
PH 517 612 2.79e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000056888
SMART Domains Protein: ENSMUSP00000053783
Gene: ENSMUSG00000005986

DomainStartEndE-ValueType
ANK 39 68 2.77e-3 SMART
ANK 72 101 9.75e1 SMART
Pfam:GPCR_chapero_1 155 469 1.2e-111 PFAM
UIM 482 501 3.2e-2 SMART
UIM 528 547 1.92e2 SMART
UIM 564 583 8.18e0 SMART
UIM 589 605 6e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000088737
AA Change: N508S

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000086114
Gene: ENSMUSG00000024858
AA Change: N508S

DomainStartEndE-ValueType
RGS 54 175 3.17e-30 SMART
S_TKc 191 453 2.43e-86 SMART
S_TK_X 454 533 5.3e-9 SMART
PH 559 654 2.79e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113837
SMART Domains Protein: ENSMUSP00000109468
Gene: ENSMUSG00000024858

DomainStartEndE-ValueType
RGS 54 175 3.17e-30 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000163858
SMART Domains Protein: ENSMUSP00000128932
Gene: ENSMUSG00000005986

DomainStartEndE-ValueType
ANK 39 68 2.77e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164427
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169653
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169991
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167172
Predicted Effect probably benign
Transcript: ENSMUST00000171123
SMART Domains Protein: ENSMUSP00000126930
Gene: ENSMUSG00000024858

DomainStartEndE-ValueType
RGS 54 175 3.17e-30 SMART
Pfam:Pkinase_Tyr 191 378 1.1e-21 PFAM
Pfam:Pkinase 191 381 4.9e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165954
SMART Domains Protein: ENSMUSP00000128177
Gene: ENSMUSG00000024858

DomainStartEndE-ValueType
Pfam:Pkinase 1 169 5.8e-46 PFAM
Pfam:Pkinase_Tyr 2 155 9.3e-20 PFAM
S_TK_X 170 208 3.39e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167215
SMART Domains Protein: ENSMUSP00000128037
Gene: ENSMUSG00000005986

DomainStartEndE-ValueType
ANK 39 68 2.77e-3 SMART
ANK 72 101 9.75e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167511
SMART Domains Protein: ENSMUSP00000129839
Gene: ENSMUSG00000024858

DomainStartEndE-ValueType
Pfam:RGS 74 134 4.5e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168594
SMART Domains Protein: ENSMUSP00000126025
Gene: ENSMUSG00000024858

DomainStartEndE-ValueType
Blast:S_TKc 2 38 2e-18 BLAST
S_TK_X 39 85 2.95e-2 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene phosphorylates the beta-2-adrenergic receptor and appears to mediate agonist-specific desensitization observed at high agonist concentrations. This protein is an ubiquitous cytosolic enzyme that specifically phosphorylates the activated form of the beta-adrenergic and related G-protein-coupled receptors. Abnormal coupling of beta-adrenergic receptor to G protein is involved in the pathogenesis of the failing heart. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality likely due to heart failure. Homozygous mutant embryos are pale in appearance and exhibit ventricular hypoplasia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik A G 11: 59,099,674 (GRCm39) T92A probably damaging Het
Ankhd1 A G 18: 36,765,125 (GRCm39) S1007G probably benign Het
Cabp4 A T 19: 4,189,406 (GRCm39) S50R possibly damaging Het
Camp A T 9: 109,678,336 (GRCm39) L56Q probably damaging Het
Cblb A G 16: 51,986,461 (GRCm39) N568S probably benign Het
Ccr6 C A 17: 8,474,825 (GRCm39) T10K probably benign Het
Chit1 T C 1: 134,072,992 (GRCm39) F106S probably damaging Het
Cyb561d1 A G 3: 108,106,943 (GRCm39) L34P probably damaging Het
Dcun1d1 A T 3: 35,975,114 (GRCm39) probably benign Het
Deup1 A G 9: 15,521,967 (GRCm39) probably benign Het
Erich1 A G 8: 14,083,518 (GRCm39) F184S probably damaging Het
Fmnl3 A G 15: 99,235,509 (GRCm39) probably null Het
Herc4 A G 10: 63,109,316 (GRCm39) I184V probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Ift56 T C 6: 38,359,155 (GRCm39) probably benign Het
Kif3b G A 2: 153,158,381 (GRCm39) A61T possibly damaging Het
Kmt2d G A 15: 98,742,890 (GRCm39) probably benign Het
Lrrc7 C A 3: 157,866,727 (GRCm39) V1005L possibly damaging Het
Lrrtm1 A T 6: 77,221,046 (GRCm39) M168L probably benign Het
Ndc1 C T 4: 107,241,977 (GRCm39) probably benign Het
Nphs1 A G 7: 30,160,164 (GRCm39) probably benign Het
Or52w1 A T 7: 105,018,454 (GRCm39) Y298F probably damaging Het
Pbld2 T C 10: 62,907,734 (GRCm39) V200A probably benign Het
Pcdhb21 A G 18: 37,647,606 (GRCm39) Y245C probably damaging Het
Pcm1 A G 8: 41,740,918 (GRCm39) T1055A probably damaging Het
Plcl2 C T 17: 50,913,948 (GRCm39) S319L probably benign Het
Plekha8 C A 6: 54,606,822 (GRCm39) Y372* probably null Het
Ralb T A 1: 119,399,506 (GRCm39) N184I probably benign Het
Robo3 C T 9: 37,339,050 (GRCm39) probably null Het
Slc41a1 T A 1: 131,766,914 (GRCm39) L144H probably damaging Het
Smg1 C T 7: 117,739,855 (GRCm39) G3364D probably damaging Het
Spmap2 A G 10: 79,412,433 (GRCm39) S329P probably damaging Het
Vmn1r123 T A 7: 20,896,216 (GRCm39) V36D possibly damaging Het
Zbtb7c T C 18: 76,278,921 (GRCm39) S460P possibly damaging Het
Zscan30 T C 18: 24,104,834 (GRCm39) noncoding transcript Het
Other mutations in Grk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00757:Grk2 APN 19 4,339,339 (GRCm39) critical splice donor site probably null
IGL01465:Grk2 APN 19 4,340,886 (GRCm39) missense probably damaging 1.00
IGL02692:Grk2 APN 19 4,340,716 (GRCm39) splice site probably benign
IGL02870:Grk2 APN 19 4,340,430 (GRCm39) missense probably damaging 1.00
IGL03210:Grk2 APN 19 4,337,857 (GRCm39) missense probably benign 0.01
IGL03227:Grk2 APN 19 4,337,857 (GRCm39) missense probably benign 0.01
IGL03230:Grk2 APN 19 4,337,857 (GRCm39) missense probably benign 0.01
Greco UTSW 19 4,340,630 (GRCm39) critical splice donor site probably null
PIT4480001:Grk2 UTSW 19 4,337,437 (GRCm39) missense possibly damaging 0.93
R0008:Grk2 UTSW 19 4,337,262 (GRCm39) missense probably damaging 0.99
R0371:Grk2 UTSW 19 4,341,614 (GRCm39) splice site probably null
R0426:Grk2 UTSW 19 4,340,628 (GRCm39) splice site probably null
R0494:Grk2 UTSW 19 4,341,347 (GRCm39) missense probably damaging 1.00
R0833:Grk2 UTSW 19 4,339,385 (GRCm39) missense probably damaging 1.00
R1240:Grk2 UTSW 19 4,340,707 (GRCm39) missense probably damaging 1.00
R1446:Grk2 UTSW 19 4,337,437 (GRCm39) missense possibly damaging 0.93
R1499:Grk2 UTSW 19 4,337,222 (GRCm39) missense probably benign 0.11
R1664:Grk2 UTSW 19 4,337,268 (GRCm39) missense possibly damaging 0.48
R1796:Grk2 UTSW 19 4,337,968 (GRCm39) missense probably benign 0.12
R1803:Grk2 UTSW 19 4,344,911 (GRCm39) missense probably damaging 1.00
R2021:Grk2 UTSW 19 4,340,698 (GRCm39) missense probably damaging 1.00
R3947:Grk2 UTSW 19 4,342,445 (GRCm39) missense possibly damaging 0.95
R4551:Grk2 UTSW 19 4,336,084 (GRCm39) missense possibly damaging 0.96
R4945:Grk2 UTSW 19 4,340,475 (GRCm39) missense probably damaging 1.00
R5299:Grk2 UTSW 19 4,342,799 (GRCm39) missense probably damaging 1.00
R5753:Grk2 UTSW 19 4,340,496 (GRCm39) missense probably damaging 1.00
R5754:Grk2 UTSW 19 4,340,496 (GRCm39) missense probably damaging 1.00
R5973:Grk2 UTSW 19 4,337,925 (GRCm39) missense possibly damaging 0.88
R6026:Grk2 UTSW 19 4,340,811 (GRCm39) missense probably damaging 0.99
R7117:Grk2 UTSW 19 4,340,630 (GRCm39) critical splice donor site probably null
R7468:Grk2 UTSW 19 4,356,063 (GRCm39) start gained probably benign
R7764:Grk2 UTSW 19 4,337,391 (GRCm39) missense probably damaging 1.00
R8250:Grk2 UTSW 19 4,339,962 (GRCm39) missense probably damaging 1.00
R8789:Grk2 UTSW 19 4,338,511 (GRCm39) missense probably damaging 1.00
R9468:Grk2 UTSW 19 4,344,952 (GRCm39) missense probably damaging 1.00
R9508:Grk2 UTSW 19 4,341,636 (GRCm39) missense probably damaging 1.00
R9526:Grk2 UTSW 19 4,340,871 (GRCm39) missense probably damaging 1.00
R9694:Grk2 UTSW 19 4,338,511 (GRCm39) missense probably damaging 1.00
X0009:Grk2 UTSW 19 4,341,617 (GRCm39) critical splice donor site probably null
Z1176:Grk2 UTSW 19 4,337,673 (GRCm39) missense probably benign 0.00
Posted On 2013-04-17